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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-102714234-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=102714234&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "GPRASP2",
"hgnc_id": 25169,
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"inheritance_mode": "Unknown,XL",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_138437.6",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "ARMCX5-GPRASP2",
"hgnc_id": 42000,
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001199818.1",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000271147",
"hgnc_id": null,
"hgvs_c": "n.522A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000486740.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 12697,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "X",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001004051.4",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000483720.7",
"protein_coding": true,
"protein_id": "NP_001004051.1",
"strand": true,
"transcript": "NM_001004051.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000483720.7",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001004051.4",
"protein_coding": true,
"protein_id": "ENSP00000507692.1",
"strand": true,
"transcript": "ENST00000483720.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3451,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000332262.10",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339057.3",
"strand": true,
"transcript": "ENST00000332262.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 547,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5582,
"cdna_start": null,
"cds_end": null,
"cds_length": 1644,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652409.1",
"gene_hgnc_id": 42000,
"gene_symbol": "ARMCX5-GPRASP2",
"hgvs_c": "c.-788A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498643.1",
"strand": true,
"transcript": "ENST00000652409.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3664,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001184874.3",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-494A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171803.1",
"strand": true,
"transcript": "NM_001184874.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001184875.3",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-494A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171804.1",
"strand": true,
"transcript": "NM_001184875.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3575,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001184876.3",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171805.1",
"strand": true,
"transcript": "NM_001184876.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001199818.1",
"gene_hgnc_id": 42000,
"gene_symbol": "ARMCX5-GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186747.1",
"strand": true,
"transcript": "NM_001199818.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_138437.6",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_612446.1",
"strand": true,
"transcript": "NM_138437.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000486814.2",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508139.1",
"strand": true,
"transcript": "ENST00000486814.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000535209.6",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-494A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437394.1",
"strand": true,
"transcript": "ENST00000535209.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000543253.6",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-494A>G",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437872.1",
"strand": true,
"transcript": "ENST00000543253.6",
"transcript_support_level": 4
},
{
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"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4505,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000907057.1",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577116.1",
"strand": true,
"transcript": "ENST00000907057.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5051,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000907058.1",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577117.1",
"strand": true,
"transcript": "ENST00000907058.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907059.1",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577118.1",
"strand": true,
"transcript": "ENST00000907059.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000907060.1",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000577119.1",
"strand": true,
"transcript": "ENST00000907060.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3598,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907061.1",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577120.1",
"strand": true,
"transcript": "ENST00000907061.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907062.1",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000577121.1",
"strand": true,
"transcript": "ENST00000907062.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000907063.1",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577122.1",
"strand": true,
"transcript": "ENST00000907063.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000907064.1",
"gene_hgnc_id": 25169,
"gene_symbol": "GPRASP2",
"hgvs_c": "c.-494A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577123.1",
"strand": true,
"transcript": "ENST00000907064.1",
"transcript_support_level": null
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"hom_count_reference_population": 4270,
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"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.049,
"pos": 102714234,
"ref": "A",
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"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
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"transcript": "NM_138437.6"
}
]
}